| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability syndromic and non-syndromic v0.5686 | ACACA | Zornitza Stark Marked gene: ACACA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5686 | ACACA | Zornitza Stark Gene: acaca has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5686 | ACACA | Zornitza Stark Classified gene: ACACA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5686 | ACACA | Zornitza Stark Gene: acaca has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5685 | ACACA |
Zornitza Stark gene: ACACA was added gene: ACACA was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ACACA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACACA were set to 34552920; 10677481; 16717184; 36709796 Phenotypes for gene: ACACA were set to Acetyl-CoA carboxylase deficiency, MIM# 613933 Review for gene: ACACA was set to AMBER Added comment: Two families with molecular testing, missense variants, supportive functional data. Sources: Literature |
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